Canonical Allele Identifier: CA401031064

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520354C>T (hg19) ; chr17:g.75524273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524273C>T , CM000679.2:g.75524273C>T	GRCh38
NC_000017.10:g.73520354C>T , CM000679.1:g.73520354C>T	GRCh37
NC_000017.9:g.71031949C>T	NCBI36
NG_013041.1:g.12746C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1442C>T MANE Select	ENSP00000327487.6:p.Pro481Leu
ENST00000434205.8:c.1139C>T	ENSP00000406559.4:p.Pro380Leu
ENST00000545228.3:c.1630C>T	ENSP00000438169.3:p.Leu544=
ENST00000577197.2:n.640C>T
ENST00000579449.2:n.2182C>T
ENST00000580013.6:n.2586C>T
ENST00000679370.1:n.2964C>T
ENST00000679429.1:c.*900C>T	ENSP00000505403.1:n.*900C>T
ENST00000679443.1:n.1511C>T
ENST00000679782.1:c.*141C>T	ENSP00000505995.1:n.*141C>T
ENST00000679919.1:n.1713C>T
ENST00000679928.1:c.*1994C>T	ENSP00000506071.1:n.*1994C>T
ENST00000680528.1:n.2408C>T
ENST00000680999.1:c.1655C>T	ENSP00000504984.1:p.Pro552Leu
ENST00000681282.1:c.*1629C>T	ENSP00000506339.1:n.*1629C>T
ENST00000333213.10:c.1442C>T	ENSP00000327487.6:p.Pro481Leu
ENST00000545228.2:c.719C>T
ENST00000577197.1:n.190C>T
ENST00000579449.1:n.639C>T
NM_207346.2:c.1442C>T	NP_997229.2:p.Pro481Leu
XM_005257229.2:c.1630C>T	XP_005257286.1:p.Leu544=
XM_006721821.2:c.1327C>T	XP_006721884.1:p.Leu443=
XM_011524616.1:c.1513C>T	XP_011522918.1:p.Leu505=
XM_011524617.1:c.*24C>T	XP_011522919.1:n.*24C>T
XM_011524618.1:c.1325C>T	XP_011522920.1:p.Pro442Leu
XR_243646.2:n.1674C>T
XM_005257229.4:c.1630C>T	XP_005257286.1:p.Leu544=
XR_001753015.1:n.87+38G>A
XR_001753016.1:n.88+38G>A
XR_243646.4:n.1680C>T
NM_207346.3:c.1442C>T MANE Select	NP_997229.2:p.Pro481Leu